scholarly journals Successful Management of Significant Maternal 3 Beta-Hydroxysteroid Dehydrogenase Deficiency

2021 ◽  
Vol 10 (2) ◽  
pp. 51-54
Author(s):  
Samantha Edwards ◽  
Amy Marino ◽  
Dana Phillips ◽  
Jennifer Phy
Keyword(s):  
Dehydrogenase Deficiency ◽  
Hydroxysteroid Dehydrogenase ◽  
Successful Management

scholarly journals Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Keechilat Pavithran ◽  
Divya Pachat ◽  
Dehannathparambil Kottarathil Vijaykumar
Keyword(s):  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
Acid Oxidation ◽  
Successful Management ◽  
Carcinoma Of The Breast ◽  
Metabolic Complications ◽  
Case Presentation ◽  
Neonatal Onset ◽  
Gene Mutation Analysis ◽  
Rare Metabolic Disorder

Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MAAD) is a rare metabolic disorder resulting from an abnormality in fatty acid oxidation. There are three types of presentations: neonatal onset with or without congenital anomalies and the late-onset type. There is much clinical heterogeneity in the presentation of late-onset variants; hence, the diagnosis is often delayed or missed. Case presentation Here, we report the successful management of a 41-year-old female with late-onset MAAD due to mutation in the ETFDH gene who presented with carcinoma of the breast. Chemotherapy was challenging because there were no previous reports regarding the treatment of such cases. Conclusion The diagnosis was made based on metabolic workup and gene mutation analysis. Unplanned surgery and chemotherapy can be fatal in these patients due to metabolic complications. With proper precautions and monitoring, the patient tolerated surgery and chemotherapy without any complications.

Clinical, Endocrine, and Molecular Genetic Findings in Patients with 17β-Hydroxysteroid Dehydrogenase Deficiency

2000 ◽  
Vol 53 (1) ◽  
pp. 26-31 ◽  
Author(s):  
Wiebke Twesten ◽  
Paul-Martin Holterhus ◽  
Wolfgang G. Sippell ◽  
Michel Morlot ◽  
Heinz Schumacher ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Molecular Genetic ◽  
Hydroxysteroid Dehydrogenase

3β-Hydroxysteroid dehydrogenase deficiency in hyperandrogenism

1993 ◽  
Vol 168 (3) ◽  
pp. 889-895 ◽  
Author(s):  
Ricardo Azziz ◽  
Edwin L. Bradley, Jr. ◽  
H. Downing Potter ◽  
Larry R. Boots
Keyword(s):  
Dehydrogenase Deficiency ◽  
Hydroxysteroid Dehydrogenase

A Case of Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Deficiency Presented With Acute Liver Failure

2022 ◽  
pp. 097321792110688
Author(s):  
Sarah Alpini ◽  
Rasheda J. Vereen ◽  
Amy Quinn
Keyword(s):  
Liver Failure ◽  
Congenital Adrenal Hyperplasia ◽  
Dehydrogenase Deficiency ◽  
Clinical Presentation ◽  
Hydroxysteroid Dehydrogenase ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Adrenal Steroidogenesis ◽  
Recurrent Hypoglycemia ◽  
Deficiency Cases

Congenital adrenal hyperplasia (CAH) is a group of rare autosomal disorders characterized by a variety of defects in adrenal steroidogenesis. Most cases of CAH are due to an enzyme deficiency in either 21-hydroxylase or 11-beta-hydroxylase. A much rarer form of CAH due to 3-betahydroxysteroid dehydrogenase (3B-HSD) deficiency results in impaired synthesis of all steroid hormones. The clinical presentation of undervirilization in 46 XY patients, hyponatremia, hyperkalemia, and recurrent hypoglycemia in 3B-HSD deficiency cases is well described in the literature. We describe a neonate with 3B-HSD deficiency that presented with ambiguous genitalia and hypoglycemia and was found to have comorbid coagulopathy, cholestasis, and direct hyperbilirubinemia with liver failure that resolved with glucocorticoid and mineralocorticoid treatment. Prompt recognition of this disease is imperative for timely intervention.

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

2021 ◽  
Vol 10 (1) ◽  
pp. 45-47
Author(s):  
Anil Kumar Sah ◽  
Bipin Maharjan ◽  
Mahesh Bahadur Adhikari ◽  
Suman Baral ◽  
Mimi Giri
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Dehydrogenase Deficiency ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Androgen Action ◽  
Disorder Of Sexual Development ◽  
Insufficiency Syndrome ◽  
Atypical Development ◽  
Female External Genitalia

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

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